Ngaba kukho umahluko emehlweni omntwana wakho omncinci? Ngaba mhlawumbi yi-Axenfeld-Rieger Syndrome?

Uvuyo oluvayo xa ujonge usana olusandul’ ukuzalwa alunakuchazwa, akunjalo? Kodwa ngamanye amaxesha, kuyinto eqhelekileyo ukuziva usoyika kancinci xa ubona umahluko kuloo mehlo mancinci, okanye kwezinye izinto ezincinci. Yiyo loo nto kubalulekile ukuqaphela ezinye iimeko ezingaqhelekanga.

Yintoni i-Axenfeld-Rieger syndrome?

Kulungile, masithethe nge-Axenfeld-Rieger syndrome. Ngamafutshane, le yimeko engaqhelekanga kakhulu yemfuza . Oko kukuthi, ibangelwa kukuguquka kwezakhi zofuzo zomntwana. Ichaphazela kakhulu amehlo eentsana. Nangona kunjalo, ngamanye amaxesha inokuchaphazela uphuhliso lwezinye iindawo zomzimba ngaphandle kwamehlo. Ngaphambili, oku kwakubizwa ngokuba yi-Axenfeld anomaly.

Oogqirha badla ngokuxilonga le meko xa umntwana ezalwa okanye xa iimpawu ziqala ukubonakala. Ibangelwa kukutshintsha kwezakhi zofuzo zomntwana wakho, okanye ulandelelwano lwe-DNA. Ngokuxhomekeke kwindlela i-Axenfeld-Rieger syndrome echaphazela ngayo amehlo omntwana, umbono unokuchaphazeleka. Kwakhona, ezinye iingxaki zamehlo zinokuvela ngokuhamba kwexesha. Le meko idla ngokuchaphazela omabini amehlo. Okubalulekileyo kukuba, ngaphezu kwesiqingatha seentsana ezine-Axenfeld-Rieger syndrome ziya kuba nesifo samehlo esibizwa ngokuba yi-glaucoma ngaxa lithile ebomini bazo.

Uhlobo lonyango umntwana wakho aludingayo luya kuxhomekeka kwiimpawu ze-Axenfeld-Rieger syndrome kunye nokuba zinzima kangakanani. Njengoko umntwana wakho ekhula, uya kufuna ukuvavanywa kwamehlo rhoqo ukuze ajonge utshintsho emehlweni akhe. Ingcali yakho yokhathalelo lwamehlo okanye ugqirha womntwana wakho uya kukuxelela ukuba kufuneka ulwenze kangaphi olu vavanyo.

Yintoni umahluko phakathi kwe-Axenfeld-Rieger syndrome kunye ne-Aniridia?

Ngoku usenokuba uzibuza ukuba yintoni umahluko phakathi kwe-Axenfeld-Rieger syndrome kunye nenye imeko yamehlo ebizwa ngokuba yi-Aniridia. Zombini ziimeko zokuzalwa , oko kuthetha ukuba zikhona xa umntwana ezalwa, kwaye zombini zichaphazela amehlo omntwana.

I-Aniridia, ngokufutshane, kukungabikho kwenxalenye enemibala yeliso, i-iris. Abanye abantwana basenokuba abayiboni ngokupheleleyo le iris, ngelixa abanye besenokuba abayiboni inxalenye yayo.

Nangona kunjalo, i-Axenfeld-Rieger syndrome ichaphazela kakhulu igumbi elingaphambili leliso. Kwakhona, ayichaphazeli nje ilensi kuphela. Njengoko bekutshiwo ngaphambili, inokuchaphazela nophuhliso lwezinye iindawo zomzimba. Zombini ezi meko zihlala zichongwa xa umntwana ezalwa. Ukuba ubona naluphi na utshintsho emehlweni okanye ekuboneni komntwana wakho, qiniseka ukuba ubona ingcali yamehlo.

Ixhaphake kangakanani le meko?

I-Axenfeld-Rieger syndrome yimeko engaqhelekanga kakhulu. Ichaphazela umntwana omnye kuphela kwiintsana ezingama-200,000 ezizalwa minyaka le. Ngoko ke abantu abaninzi basenokuba abakayiva loo nto.

Zithini iimpawu ze-Axenfeld-Rieger syndrome?

Iimpawu ze-Axenfeld-Rieger syndrome zinokwahlulwa zibe ziindidi ezimbini eziphambili:

• Iimpawu zamehlo: Iimpawu ezichaphazela amehlo omntwana wakho.
• Iimpawu zenkqubo yomzimba: Iimpawu ezenzeka xa umntwana ekhula kwenye indawo emzimbeni wakhe.

Iimpawu zamehlo

Okokuqala, makhe sibone ukuba zeziphi iimpawu ezinokubonwa ezinxulumene namehlo:

• Ii-iris ezibhityileyo okanye ezingakhulanga kakuhle: Inxalenye enombala yeliso isenokungakhulanga ngokupheleleyo.
• Abafundi abangajongiyo: Inxalenye emnyama embindini weliso, ebizwa ngokuba yi-pupil, isenokuba ayijongiyo embindini kancinci.
• Iingxaki ngenxalenye engaphambili yeliso (i-cornea): Iingxaki ezithile zinokwenzeka kwi-cornea, engaphambili kweliso.

Ngenxa ye-Axenfeld-Rieger syndrome, umntwana wakho unamathuba amaninzi okufumana ezinye izifo zamehlo. Ezona ziphambili zezi:

• I-Glaucoma: Oku kuqheleke kakhulu.
• IiCataracts: IiCataracts .
• I-Coloboma: Ukulahlekelwa yinxalenye yeliso.
• Ukuwohloka kwe-macular: Ukonakala kwenxalenye ye-retina.
• I-Strabismus (amehlo anqamlezileyo): Ukunqamlezileyo kwamehlo.

Iimpawu zenkqubo yomzimba ezichaphazela ezinye iindawo zomzimba

Ngoku makhe sijonge iimpawu ezichaphazela amanye amalungu omzimba. Ezi azixhaphakanga njengeempawu ezichaphazela amehlo. Nangona kunjalo, ukuba umntwana wakho unazo ezi mpawu, zisenokuba zezi:

• Iingxaki zentloko:
• I-Hypertelorism: Amehlo abanzi kunye nobuso obuthe tyaba.
• Ngamanye amaxesha ibunzi lomntwana linokuba banzi ngendlela engaqhelekanga kwaye livele phambili.
• Iimpawu zamazinyo:
• Iintsana ezine-Axenfeld-Rieger syndrome ngamanye amaxesha zizalwa zinamazinyo amancinci ngendlela engaqhelekanga.
• Amanye amazinyo asenokuba engekho.
• Ulusu olongezelelweyo:
• Kunokuvela imibimbi engaphezulu yesikhumba esiswini somntwana, kufutshane neqhosha lesisu .
• Kumakhwenkwe, ngamanye amaxesha unokubona ulusu olongezelelweyo ngaphantsi kwepenisi.
• Imingxunya emxinwa ye-urethra okanye yempundu.
• Iziphene zentliziyo: Ngamanye amaxesha iziphene zentliziyo ezizalwa nazo zinokwenzeka.
• Iingxaki ze-pituitary gland: Iintsana ezine-Axenfeld-Rieger syndrome ngamanye amaxesha zinokuba nokulibaziseka kokukhula. Oku kuthetha ukuba zithatha ixesha elide ukukhula kunabanye abantwana.

Yintoni ebangela i-Axenfeld-Rieger syndrome?

I-Axenfeld-Rieger syndrome sisifo semfuza . Oko kukuthi, sifunyanwa ngabazali ukuya ebantwaneni. Oogqirha bakwabiza ngokuba yimeko yokuzalwa. Ibangelwa ikakhulu kukuguquka kwezakhi zofuzo ze-FOXC1 kunye ne-PITX2. Ezi zakhi zofuzo zimbini zihlala zinceda ukulawula ukukhula komntwana, ingakumbi ukukhula kwamehlo, ngexesha lokukhulelwa.

I-Axenfeld-Rieger syndrome yimeko yemfuza elawula i-autosomal. Ngamafutshane, oku kuthetha ukuba umntwana kufuneka azuze i-gene ngolu tshintsho kumzali wakhe omnye kuphela ukuze abe nale meko. Nangona kunjalo, oku akuthethi ukuba ukuba unalo tshintsho kwimfuza yakho, umntwana wakho ngokuqinisekileyo uya kuba ne-Axenfeld-Rieger syndrome. Nangona kunjalo, kukho amathuba angama-50% okuba oku kwenzeke. Ukuze ufunde okungakumbi ngale nto, thetha nogqirha wakho malunga nokuya kwingcebiso yemfuza.

Ifunyanwa njani i-Axenfeld-Rieger syndrome? (Ukuxilongwa)

Ugqirha wakho okanye ingcali yamehlo iya kuba nguye oza kuxilonga umntwana wakho nge-Axenfeld-Rieger syndrome. Njengoko bekutshiwo ngaphambili, ukuba umntwana wakho uneengxaki ezibonakalayo ngamehlo akhe okanye ezinye iindawo zomzimba wakhe ekuzalweni, unokuxilongwa xa ezalwa. Kungenjalo, unokuxilongwa emva kokuba umntwana eqale ukubonisa iimpawu.

Ugqirha wamehlo uza kwenza uvavanyo olupheleleyo lwamehlo ukuze ahlole amehlo omntwana (kuquka nangaphakathi). Kunokwenziwa uvavanyo oluninzi ukuze kufunyanwe isifo se-Axenfeld-Rieger, kuquka:

• Uvavanyo lokubona kakuhle: Jonga ukuba umbono womntwana uchaphazelekile na.
• I-Gonioscopy: Jonga i-glaucoma.
• Uvavanyo lwe-DNA kunye novavanyo lwe-genetic: Jonga ukuba umntwana unayo na i-genetic mutation ebangela i-Axenfeld-Rieger syndrome.

Ziziphi iindlela zonyango lwe-Axenfeld-Rieger syndrome?

Unyango lwe-Axenfeld-Rieger syndrome luxhomekeke ekubeni iimpawu zomntwana wakho ziphi na kwaye zeziphi iingxaki ezibangela loo nto. Thetha nogqirha wakho okanye ingcali yamehlo malunga nonyango umntwana wakho aludingayo kunye nokuba kufuneka enze uvavanyo olulandelayo kangaphi ukuze ajonge utshintsho emehlweni nasemzimbeni wakhe.

Unyango lweGlaucoma

Abantwana abane-Axenfeld-Rieger syndrome basengozini enkulu yokuba ne-glaucoma, kwaye banokufuna unyango lwayo ngaxa lithile ebomini babo.

I-Glaucoma ligama eliqhelekileyo leqela lezifo zamehlo ezonakalisa umthambo we-optic. Ukuba ayinyangwa ngokukhawuleza, i-glaucoma inokukhokelela ekubeni yimfama engapheliyo. Kwiimeko ezininzi, ulwelo luyaqokelelana ngaphambili kweliso. Olu lwelo lungaphezulu lubangela uxinzelelo ngaphakathi kweliso (uxinzelelo lwangaphakathi kweliso - IOP, okanye uxinzelelo lwamehlo), oluthi lonakalisa kancinci kancinci umthambo we-optic.

Iindlela eziphambili zonyango lwe-glaucoma zezi:

• Amathontsi amehlo anonyango.
• Unyango lweLaser: Susa ulwelo elisweni.
• Utyando: Nciphisa uxinzelelo.

I-Glaucoma inokunyangelwa ukulawula ukulahleka kokubona okungakumbi. Nangona kunjalo, ukubona okulahlekileyo akunakubuyiselwa. Ke ngoko, ukuba umntwana wakho uneempawu ze-glaucoma, kubaluleke kakhulu ukubona ingcali yamehlo ngokukhawuleza:

• Intlungu yamehlo.
• Intloko ebuhlungu kakhulu.
• Iingxaki zokubona.

Ngaba i-Axenfeld-Rieger syndrome ingathintelwa?

Ukuba umntwana wakho uzuze i-gene mutation ebangela oku, akunakwenzeka ukuthintela i-Axenfeld-Rieger syndrome. Ukuba ukhathazekile ngomngcipheko wokuba abantwana bakho bafumane i-genetic disorder, thetha nogqirha wakho. Ungathunyelwa kwingcebiso ye-genetic.

Ukuba umntwana wam une-Axenfeld-Rieger syndrome, ndimele ndilindele ntoni?

Ayizizo zonke iimeko ze-Axenfeld-Rieger syndrome ezifanayo. Ukuba iya kubachaphazela kangakanani ubomi bomntwana kuxhomekeke ekubeni iimpawu zikuphi kunye neengxaki ezibangelwa zizo. Thetha nogqirha wakho okanye ingcali yamehlo malunga nento omawuyijonge njengoko umntwana wakho ekhula.Ukuba ubona naziphi na iimpawu ezintsha, kungcono ukuba uzihlole ngokukhawuleza.

Ndifanele ndimbone nini ugqirha?

Bonana nogqirha kwangoko xa ubona naluphi na utshintsho emehlweni okanye embonweni womntwana wakho.

Ixesha lokuya kwigumbi likaxakeka:

• Ukulahlekelwa ngumbono ngequbuliso.
• Intlungu ebuhlungu yamehlo.
• Babona ukukhanya okutsha okanye ukudada emehlweni abo. Ezi zizibonakaliso ezibaluleke kakhulu.

Yeyiphi imibuzo endifanele ndiyibuze ugqirha/ugqirha?

Xa usiya kubona ugqirha okanye umongikazi, ungalibali ukubuza imibuzo efana nale:

• Ngaba kufuneka ndifumane uvavanyo lwe-DNA ukuqinisekisa ukuba umntwana wam une-Axenfeld-Rieger syndrome?
• Apho anokuba neempawu khona? (Ingaba zisemehlweni kuphela, okanye nakwezinye iindawo zomzimba?)
• Luhlobo luni lonyango aludingayo?
• Zeziphi iinguqu ezenzeka emehlweni okanye emzimbeni wakhe ekufuneka ndiziqwalasele ngokukodwa?

Umyalezo Wokuya Ekhaya

I-Axenfeld-Rieger syndrome sisifo esingaqhelekanga esibangelwa yimfuza. Sinokuchaphazela amehlo omntwana wakho. Ngamanye amaxesha iimpawu zinokuvela nakwezinye iindawo zomzimba. Ngokuxhomekeke kwiimpawu zomntwana wakho, unokufuna nje ukumjonga ukuze ubone ukuba amehlo akhe okanye umbono wakhe uyatshintsha na. Nangona kunjalo, kusenokwenzeka ukuba umntwana wakho abe ne-glaucoma ngaxa lithile ebomini bakhe. Ngoko ke, ukuba amehlo omntwana wakho abuhlungu okanye umbono wakhe uba mandundu, bonana nengcali yamehlo ngoko nangoko.

Ukuba ukhathazekile malunga nokudlulisela utshintsho lwezakhi zofuzo olubangela i-Axenfeld-Rieger syndrome ebantwaneni bakho, thetha nogqirha wakho. Angacebisa iingcebiso ngezakhi zofuzo ukuze akuncede uqonde iingozi zakho. Khumbula, kubalulekile ukuzazi ezi meko kwaye ufune iingcebiso zonyango xa kuyimfuneko.

Isifo sika - Axenfeld-Rieger, isifo sika-Axenfeld-Rieger, izifo zemfuza, izifo zamehlo, i-glaucoma, impilo yabantwana, i-glaucoma, iingxaki zamehlo, iingxaki zemfuza, iimeko zokuzalwa, i-aniridia, i-DNA